Mechanisms and biomarkers are essential for detection and understanding both the disease and its progression. They are also key to understand whether and how a potential therapy will affect a specific disease.

At the Emma Center for Personalized Medicine, our focus is on providing personalized care for patients with rare diseases. This accelerates by understanding the working mechanisms - not only of the disease itself but also of the suggested therapies, as well as selecting biomarkers that can indicate whether therapies are effective in patients.

Biomarkers are important measures. For example, the measurement of monolysocardiolipin and cardiolipin in Barth Syndrome is a key biomarker for detecting the disease. Another example is accumulation of cystine in cystinosis. Some of the biomarkers measured to diagnose a specific disease can also be used to assess whether a therapy is having the intended effect, which underscores the importance of selecting the correct biomarkers. Thus biomarkers are essential not only essential for understanding the disease but also for evaluating therapies provided to the patients.

Mechanisms can inform us how a specific disease is developed in a patient. Furthermore, they are important to understand and select a (targeted) therapy for the patients. Mechanisms provide insight into whether and why a therapy will be effective, as well as the potential for side effects. For many patients with rare diseases, the mechanisms behind disease development and progression are not yet fully understood. To enhance our understanding, we use model systems mimic the disease in the laboratory and functional measurements, which, piece by piece, help us assemble the puzzle of understanding rare diseases.